Genetics
-
A case of an unexpected reason for a failed prenatal non-invasive test
-
A case of early detection of molybdenum cofactor deficiency in prenatal care
-
A case of mutation gen PIK3R2 retaled with fetal macrocephaly
-
A case of prenatal detection of ultrasound changes - cytogenetic study and genetic counseling
-
A case of prenatal diagnosis of deletion in the distal region of the short arm of chromosome 2
-
A case of successful pregnancy outcome in turner syndrome
-
A case report and literature reivew of 1p34.3 deletion
-
A nine-year retrospective study of amniocentesis in a district hospital
-
A rare case of trisomy 8 mosaicism
-
A spontaneous pregnancy in a patient with turner syndrome with 45, x/47, XXX mosaicism
-
Application of Exome Sequencing for perinatal diagnosis in the presence of fetal malformations
-
Bartter syndrome type IVa: an unusual cause of polyhydramnios
-
Chorion villus sampling for early follow-up diagnostic testing of a subset of NIPT trisomies
-
Clinical use of combined first trimester screening for aneuploidy at tertiary centre in low resource setting, Ethiopia
-
Diagnosis of Turner syndrome based on ductus venosus agenesis
-
Enhancing thalassemia carrier detection: a comprehensive study of prenatal screening methods
-
Evaluation of the possibility of ultrasound, biochemical screening and non-invasive prenatal testing for fetal malformations and chromosomal abnormalities
-
Fetal exome sequencing for both fetuses having increased nuchal translucency in a DCDA twin pregnancy
-
Fetal Marfan's syndrome due to a novel FBN1 mutation
-
FLNA de novo pathogenic variant in a fetus with skeletal dysplasia
-
From detection to decision: managing variants of uncertain significance in prenatal genetic testing: a report of three cases
-
Increased nuchal translucency thickness and normal chromosomal microarray: A Danish nationwide cohort study
-
Increased nuchal translucency, beyond Down Syndrome toward the study of RASopathies
-
Management of pregnancies complicated by Fabry disease. A case report and literature review
-
Novel prenatal phenotype of interstitial deletions in chromosome 2q32-33 [Glass Syndrome]: expanding the phenotypic spectrum
-
Nuchal translucency above the 99th percentil with a normal karyotype – what are the outcomes?
-
Perspectives of pregnant women on broadening the scope of noninvasive prenatal testing from screening for fetal aneuploidies to prediction of adverse pregnancy outcomes
-
Polymalformative syndrome with normal genetic study
-
Prenatal diagnosis of chromosome 1 monosomy: a case report of phenotypic manifestations including palatal cleft, horseshoe kidney, and cerebellum hypoplasia
-
Prenatal diagnosis of poretti-boltshauser - the cerebellum is the key
-
Prenatal diagnosis of Wolf-Hirschorn syndrome
-
Prenatal exome sequencing for apparently isolated short long bones and small for gestational age
-
Prenatal ultrasound abnormalities and dilemmas in genetic counselling in copy number variants of the short arm of chromosome 16
-
Prenatal whole genome cell-free DNA testing as an alternative to microarray for isolated increased fetal nuchal translucency between the 95th-99th percentiles: a retrospective analysis
-
Rearrangements of 22q11.2 in foetus – ultrasonography and screening tests results
-
Residual risk of chromosomal aberrations following normal prenatal screening: Danish nationwide data from 2008-2018
-
Residual risks for chromosomal aberrations in patients with normal NIPS (non-invasive prenatal screening) – a retrospective study
-
Seek the gene and you shall find: rare hyal2 gene variants associated with complex cardiac defects and orofacial clefting
-
Severe and early iugr in pregnancy with a triploid fetus: rare evolution until the end of the second trimester
-
Severe intrauterine growth restriction with postnatal diagnosis of triploidy
-
Should patients carrying fetuses with known or likely trisomy 21 be managed with dopplers?
-
Study of cfDNA kinetics disappearance in vanishing twin pregnancies
-
The importance of mutation pattern in genetic counseling while encountering abnormal prenatal single-nucleotide polymorphism array results
-
Ultrasound road to chromosomal aberration diagnosis